Mutagenetix > Incidental Mutation

Incidental Mutation 'R6781:Defa3'

531423

Institutional Source

Beutler Lab

Gene Symbol

Defa3

Ensembl Gene

ENSMUSG00000074440

Gene Name

defensin, alpha, 3

Synonyms

Defcr-3, Defcr3

MMRRC Submission

044895-MU

Accession Numbers

Essential gene?

Not available question?

Stock #

R6781 (G1)

Quality Score

129.008

Status

Not validated

Chromosome

Chromosomal Location

21777425-21778393 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 21778277 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 87 (M87K)

Ref Sequence

ENSEMBL: ENSMUSP00000096492 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000098893]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000098893
AA Change: M87K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000096492
Gene: ENSMUSG00000074440
AA Change: M87K

Domain	Start	End	E-Value	Type
Pfam:Defensin_propep	1	52	9.4e-30	PFAM
DEFSN	64	92	2e-10	SMART

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.4%

Validation Efficiency

98% (45/46)

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca3	T	A	17: 24,593,380 (GRCm39)	I259N	possibly damaging	Het
Acot12	G	T	13: 91,932,531 (GRCm39)		probably null	Het
AI182371	G	T	2: 34,974,717 (GRCm39)		probably benign	Het
Amigo3	T	C	9: 107,931,162 (GRCm39)	L195P	probably damaging	Het
Aox4	A	T	1: 58,284,268 (GRCm39)	D556V	probably benign	Het
Arhgef40	A	C	14: 52,235,354 (GRCm39)		probably benign	Het
Asb15	T	C	6: 24,558,674 (GRCm39)	V63A	probably benign	Het
Bicd1	T	C	6: 149,414,664 (GRCm39)	I459T	possibly damaging	Het
Bub1	C	A	2: 127,649,777 (GRCm39)	G694W	probably damaging	Het
C4b	A	T	17: 34,961,928 (GRCm39)	I106N	probably damaging	Het
Clca4b	T	C	3: 144,628,562 (GRCm39)	I382V	probably benign	Het
Cntnap5a	A	C	1: 116,220,127 (GRCm39)	S646R	probably benign	Het
Cntnap5c	C	T	17: 58,445,648 (GRCm39)	Q563*	probably null	Het
Cpn1	A	G	19: 43,969,343 (GRCm39)	F107L	possibly damaging	Het
Csrnp3	T	A	2: 65,852,615 (GRCm39)	C336S	probably benign	Het
Dennd2b	T	C	7: 109,124,511 (GRCm39)	D1110G	possibly damaging	Het
Dmbt1	T	C	7: 130,648,291 (GRCm39)	F274L	probably benign	Het
Dnah8	TTA	TTATA	17: 30,984,698 (GRCm39)		probably null	Het
Dnase2b	T	C	3: 146,288,126 (GRCm39)	H323R	probably benign	Het
Fam83e	A	T	7: 45,371,571 (GRCm39)		probably benign	Het
Fbn1	T	C	2: 125,158,958 (GRCm39)	N2269S	probably damaging	Het
Foxa1	A	T	12: 57,590,043 (GRCm39)	M59K	possibly damaging	Het
Fpr3	T	C	17: 18,190,978 (GRCm39)	V83A	probably benign	Het
Frmd6	A	G	12: 70,946,417 (GRCm39)	D615G	possibly damaging	Het
Gfra3	T	C	18: 34,844,375 (GRCm39)	K55R	possibly damaging	Het
Gm5414	A	T	15: 101,534,096 (GRCm39)	S296T	possibly damaging	Het
Gtf3c1	T	A	7: 125,258,369 (GRCm39)	K1234*	probably null	Het
Hltf	T	A	3: 20,152,330 (GRCm39)	Y609N	probably benign	Het
Idh2	TCCCAGG	T	7: 79,748,079 (GRCm39)		probably benign	Het
Ift74	A	G	4: 94,515,539 (GRCm39)	D152G	probably damaging	Het
Kcnk6	T	C	7: 28,924,480 (GRCm39)	Y308C	probably damaging	Het
Klhl29	A	G	12: 5,141,347 (GRCm39)	S546P	probably damaging	Het
Map7d1	AGGGCAGCC	AGGGCAGCCGGGCAGCC	4: 126,134,544 (GRCm39)		probably null	Het
Meis2	T	A	2: 115,879,636 (GRCm39)	H228L	probably benign	Het
Mfsd10	A	T	5: 34,791,853 (GRCm39)	M344K	possibly damaging	Het
Mrps33	T	C	6: 39,782,757 (GRCm39)		probably benign	Het
Or2a52	A	G	6: 43,144,322 (GRCm39)	E110G	probably damaging	Het
Or4p23	A	T	2: 88,577,174 (GRCm39)	N19K	probably benign	Het
Pik3cb	T	C	9: 98,923,045 (GRCm39)	T996A	possibly damaging	Het
Plekha7	A	G	7: 115,757,090 (GRCm39)		probably null	Het
Ppp1cb	A	G	5: 32,638,106 (GRCm39)	Y86C	probably damaging	Het
Sass6	T	G	3: 116,388,773 (GRCm39)		probably benign	Het
Slc6a15	A	T	10: 103,230,928 (GRCm39)	I218F	probably damaging	Het
Tcf23	C	T	5: 31,126,304 (GRCm39)	P61L	probably benign	Het
Yod1	G	A	1: 130,645,275 (GRCm39)	G19S	probably damaging	Het
Zc3h6	T	C	2: 128,857,341 (GRCm39)	F620S	probably damaging	Het

Other mutations in Defa3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R6859:Defa3	UTSW	8	21,778,213 (GRCm39)	missense	probably damaging	1.00
R8069:Defa3	UTSW	8	21,778,288 (GRCm39)	missense	probably damaging	1.00
R8542:Defa3	UTSW	8	21,778,179 (GRCm39)	splice site	probably null

Predicted Primers

PCR Primer
(F):5'- TGTGGCCAAAACAGCACAG -3'
(R):5'- GGTTTCCTAGAAGGTCCTGGTAC -3'

Sequencing Primer
(F):5'- TGGCCAAAACAGCACAGTCATG -3'
(R):5'- GGTCCTGGTACTTTATATACAGAGCC -3'

Posted On

2018-08-29